A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv961043



Internal ID18596290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32512272..32515004hg38UCSC Ensembl
Innerchr18:30092235..30094967hg19UCSC Ensembl
Innerchr18:28346233..28348965hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg382733
hg192733
hg182733
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2123209, nssv2123207, nssv2123212, nssv2123211, nssv2123206, nssv2123205, nssv2123208, nssv2123210, nssv2123204, nssv2123203
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known GenesWBP11P1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv961043
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer